PDF(Pubmed)
Abstract：
Multiple endocrine neoplasia type 1 (MEN1) is a rare, inherited cancer syndrome characterized by the development of multiple endocrine and non-endocrine tumors. MEN1 patients show a reduction of bone mass and a higher prevalence of early onset osteoporosis, compared to healthy population of the same age, gender, and ethnicity. During the monitoring and follow-up of MEN1 patients, the attention of clinicians is primarily focused on the diagnosis and therapy of tumors, while the assessment of bone health and mineral metabolism is, in many cases, marginally considered. In this study, we retrospectively analyzed bone and mineral metabolism features in a series of MEN1 patients from the MEN1 Florentine database. Biochemical markers of bone and mineral metabolism and densitometric parameters of bone mass were retrieved from the database and were analyzed based on age ranges and genders of patients and presence/absence of the three main MEN1-related endocrine tumor types. Our evaluation confirmed that patients with a MEN1 diagnosis have a high prevalence of earlyonset osteopenia and osteoporosis, in association with levels of serum and urinary markers of bone turnover higher than the normal reference values, regardless of their different MEN1 tumors. Fifty percent of patients younger than 26 years manifested osteopenia and 8.3% had osteoporosis, in at least one of the measured bone sites. These data suggest the importance of including biochemical and instrumental monitoring of bone metabolism and bone mass in the routine medical evaluation and follow-up of MEN1 patients and MEN1 carriers as important clinical aspects in the management of the syndrome.
摘要：
多发性内分泌瘤1型（MEN1）是一种罕见的，以多种内分泌和非内分泌肿瘤发展为特征的遗传性癌症综合征。MEN1患者显示骨量减少和早发性骨质疏松症的患病率较高，与同龄健康人口相比，性别,和种族。在监测和随访MEN1患者期间，临床医生的注意力主要集中在肿瘤的诊断和治疗上，虽然对骨骼健康和矿物质代谢的评估是，在许多情况下,边际考虑。在这项研究中,我们回顾性分析了MEN1佛罗伦萨数据库中一系列MEN1患者的骨和矿物质代谢特征.从数据库中检索骨和矿物质代谢的生化标志物以及骨量的密度参数，并根据患者的年龄范围和性别以及三种主要的MEN1相关内分泌肿瘤类型的存在/不存在进行分析。我们的评估证实，MEN1诊断的患者早期骨质减少和骨质疏松症的患病率很高，与骨转换的血清和尿标志物水平高于正常参考值相关，无论其不同的MEN1肿瘤。在26岁以下的患者中，有50％出现骨量减少，8.3％患有骨质疏松症，在至少一个测量的骨部位中。这些数据表明，在MEN1患者和MEN1携带者的常规医学评估和随访中，包括对骨代谢和骨量的生化和仪器监测是该综合征管理的重要临床方面。
